Primary Hyperoxaluria Mutation Genotyping
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Purpose
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria. This study is a more complete DNA test than the routine clinical test.
| Condition | Intervention |
|---|---|
|
Primary Hyperoxaluria |
Genetic: Genetic Analysis |
| Study Type: | Interventional |
| Study Design: | Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Screening |
| Official Title: | Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria |
- To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria [ Time Frame: 2 years ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 400 |
| Study Start Date: | December 2003 |
| Estimated Study Completion Date: | December 2020 |
| Estimated Primary Completion Date: | December 2020 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
1
Genetic Analysis
|
Genetic: Genetic Analysis
We will draw one tube of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing.
|
Detailed Description:
During your study visit, we will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Primary Hyperoxaluria by comparing it with the structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hour urine test may also be collected.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
- You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
- You have a family member diagnosed with Primary Hyperoxaluria
Contacts and Locations| Contact: Barbara Seide | 507-255-0387 | seide.barbara@mayo.edu |
| Contact: Mayo Clinic Hyperoxaluria Center | 800-270-4637 | hyperoxaluriacenter@mayo.edu |
| United States, Minnesota | |
| Mayo Clinic | Recruiting |
| Rochester, Minnesota, United States, 55905 | |
| Contact: Barbara Seide 507-255-0387 seide.barbara@mayo.edu | |
| Principal Investigator: Dawn Milliner, MD | |
| Principal Investigator: | Dawn Milliner, MD | Mayo Clinic |
More Information
Additional Information:
No publications provided
| Responsible Party: | Dr. Dawn Milliner, Mayo Clinic |
| ClinicalTrials.gov Identifier: | NCT00589225 History of Changes |
| Other Study ID Numbers: | 434-03, DK73354-03 |
| Study First Received: | December 28, 2007 |
| Last Updated: | May 24, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Mayo Clinic:
|
PH PHI Primary Hyperoxaluria Hyperoxaluria Primary Oxalosis |
PHII Genetic testing for PH Genetic testing for Primary Hyperoxaluria Hereditary study for PH Hereditary study for Primary Hyperoxaluria |
Additional relevant MeSH terms:
|
Hyperoxaluria Hyperoxaluria, Primary Kidney Diseases Urologic Diseases |
Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases |
ClinicalTrials.gov processed this record on October 17, 2012
